2025-05-09 19:07:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_153339 1262 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens pseudouridylate synthase-like 1 (PUSL1), mRNA. ACCESSION NM_153339 VERSION NM_153339.1 GI:23503258 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1262) AUTHORS Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P., Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A., Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E., Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C., Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N., Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A., Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S., D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C., Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K., Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A., Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L., Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W., Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W., Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J., Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M., Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J., Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M., Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S., Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V., Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G., Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M., Vermeire,S., Barrett,J.C. and Cho,J.H. CONSRTM International IBD Genetics Consortium (IIBDGC) TITLE Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease JOURNAL Nature 491 (7422), 119-124 (2012) PUBMED 23128233 REFERENCE 2 (bases 1 to 1262) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from BC034304.1. ##Evidence-Data-START## Transcript exon combination :: BC034304.1, AK075292.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1262 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p36.33" gene 1..1262 /gene="PUSL1" /note="pseudouridylate synthase-like 1" /db_xref="GeneID:126789" /db_xref="HGNC:26914" /db_xref="HPRD:08301" exon 1..107 /gene="PUSL1" /inference="alignment:Splign:1.39.8" misc_feature 7..9 /gene="PUSL1" /note="upstream in-frame stop codon" CDS 31..942 /gene="PUSL1" /note="tRNA-uridine isomerase-like 1; tRNA pseudouridylate synthase-like 1" /codon_start=1 /product="tRNA pseudouridine synthase-like 1" /protein_id="NP_699170.1" /db_xref="GI:23503259" /db_xref="CCDS:CCDS20.1" /db_xref="GeneID:126789" /db_xref="HGNC:26914" /db_xref="HPRD:08301" /translation="
MSSAPASGSVRARYLVYFQYVGTDFNGVAAVRGTQRAVGVQNYLEEAAERLNSVEPVRFTISSRTDAGVHALSNAAHLDVQRRSGRPPFPPEVLAEALNTHLRHPAIRVLRAFRVPSDFHARHAATSRTYLYRLATGCHRRDELPVFERNLCWTLPADCLDMVAMQEAAQHLLGTHDFSAFQSAGSPVPSPVRTLRRVSVSPGQASPLVTPEESRKLRFWNLEFESQSFLYRQVRRMTAVLVAVGLGALAPAQVKTILESQDPLGKHQTRVAPAHGLFLKSVLYGNLGAASCTLQGPQFGSHG
" misc_feature 67..882 /gene="PUSL1" /note="tRNA pseudouridine synthase A; Validated; Region: truA; PRK00021" /db_xref="CDD:178798" misc_feature 82..882 /gene="PUSL1" /note="Eukaryotic and bacterial pseudouridine synthases similar to E. coli TruA; Region: PseudoU_synth_EcTruA; cd02570" /db_xref="CDD:211337" misc_feature order(85..87,325..327,334..345,349..360) /gene="PUSL1" /note="dimerization interface 3.5A [polypeptide binding]; other site" /db_xref="CDD:211337" misc_feature order(217..228,733..735) /gene="PUSL1" /note="active site" /db_xref="CDD:211337" misc_feature 280..282 /gene="PUSL1" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q8N0Z8.1); phosphorylation site" misc_feature 328..330 /gene="PUSL1" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine; propagated from UniProtKB/Swiss-Prot (Q8N0Z8.1); phosphorylation site" exon 108..165 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 166..353 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 354..503 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 504..674 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 675..729 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 730..892 /gene="PUSL1" /inference="alignment:Splign:1.39.8" exon 893..1240 /gene="PUSL1" /inference="alignment:Splign:1.39.8" STS 1007..1150 /gene="PUSL1" /standard_name="RH91825" /db_xref="UniSTS:87779" variation complement(1155) /gene="PUSL1" /replace="c" /replace="t" /db_xref="dbSNP:3818448" ORIGIN
cgcctctgacgccaccggctgggctccgccatgagttcggcgccggcctcaggctccgtgcgcgcgcgctatcttgtgtacttccagtacgtgggcaccgactttaacggggtcgcggccgtcaggggcactcagcgcgccgtcggggtccagaactacctggaggaggccgccgagcggctgaattccgtggagccggtcaggttcaccatctccagccgcacggacgccggggtccacgccctgagcaacgcggcgcacctggacgtccagcgccgctcaggccggccgcccttcccgcccgaggtcctggccgaggccctcaacacacacctgcggcacccggccatcagggtcctgcgggccttccgagtgcccagcgacttccacgctcgtcacgcagccacgtcccggacctacctgtaccgcctggccactggctgtcaccggcgtgatgagctgccggtgtttgaacgcaacctatgctggactctcccggcagactgcctggatatggtcgccatgcaggaagccgcccagcacctcctcggcacacacgacttcagcgccttccagtccgctggcagcccggtgccgagccccgtgcgaacgctgcgccgggtctccgtttccccaggccaagccagccccttggtcacccccgaggagagcaggaagctgcggttctggaacctggagtttgagagccagtctttcctgtatagacaggtacggaggatgacggctgtgctggtggccgtggggctgggggctttggcacctgcccaggtgaagacgattctggagagccaagatcccctgggcaagcaccagacacgtgtagccccagcccacggcttattcctcaagtcagtgctgtacgggaacctcggtgctgcctcctgcaccctgcaggggccacagttcgggagccacggatgaccctggacactcaagccaaagttaggccacaccaggcccaaccctgtgctggtcaagccagggcagtcacagctgcttggggcccacagcactgctgcctggtctccacagtagcctccctgcccgggtcccagcaccctggatgcccgtctctgtcccaggcgggatggggcacagtgcaggacacagccatgtacaccaagaagagagtaccaagtagtcttttgttcagcttttactggaaactgctgtctaggaccacctgccctaaccaggaataaaggcaagacagcctggaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:126789 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA GeneID:126789 -> Molecular function: GO:0009982 [pseudouridine synthase activity] evidence: IEA GeneID:126789 -> Biological process: GO:0001522 [pseudouridine synthesis] evidence: IEA GeneID:126789 -> Biological process: GO:0008033 [tRNA processing] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_699170 -> EC 5.4.99.-
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